Kalrn - SNV Details



 Gene Information 
Gene Name Kalrn
Old Gene Names for Kalrn 2210407g14rik , Hapip , Av235988 , E530005c20rik , Gm539
Gene Description kalirin, RhoGEF kinase [Source:MGI Symbol;Acc:MGI:2685385]
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; protein kinase activity; perinuclear region of cytoplasm; kinase activity; metal ion binding; axonogenesis; intracellular; transferase activity
transferring phosphorus-containing groups; Rho guanyl-nucleotide exchange factor activity; protein binding; neuronal cell body; cytoskeleton; regulation of Rho protein signal transduction; protein phosphorylation; regulation of dendrite development; protein tyrosine kinase activity; ATP binding; neuron projection; phospholipid binding; protein serine/threonine kinase activity
Homolog in other species KALRN
Omim http://omim.org/entry/604605
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000061751
Chromosome 16
Coordinate 34,252,341     (Assembly: GRCm38)    
Ref Base A
Codon Change Tct/Cct
Var Base G
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:R0.67
G:V0.33
Amino Acid Position 88
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02059
Median Base Quality 34.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.03
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved